A case of Fanconi anemia is reported, with typical
cutaneous manifestations of diffuse hyperpigmentation and café-au-lait spots.
He also presented thumb hypoplasia, short stature, cataract, hypoacusis, pelvic
kidneys and chromosome breakage. Presently 30-years-old, the patient is stable,
with leukopenia and macrocytosis without clinical symptoms, in contrast to usual
prognosis of this syndrome, which involves early death due to complications
of bone marrow aplasia, leukemia and solid tumors.

Thirty-year-old white male patient, single,
working as a welder, born in and coming from Congonhas, MG, who was referred
from the Department of Hematoloy, where findings of macrocytosis and leukopenia
were being investigated.

He complained of dark asymptomatic skin spots,
with slow progression, and onset 20 years before. He also presented hypoplasia
of the first right finger (Figure 1), low stature, left
eye cataract (Figure 2), hypoacusis of the right ear and
pelvic kidneys. He reported an excision of a skin cancer from the left infra-orbital
region. He had a family history of two brothers who had died as a consequence
of anemia and pneumonia.

Upon dermatological examination, he presented
an intense disseminated hyperpigmentation in the face (Figures
2 and 3), neck and trunk; diffuse hyperpigmentation
in the axillae, permeated by hypopigmented spots (Figure 4),
besides two café-au-lait spots in the cervical region (Figure
5).

The patient is still under medical follow-up
in the Department of Hematology and remains stable, with macrocytosis and leukopenia
with no clinical consequences.

WHAT IS THIS SYNDROME?

Fanconi Anemia

Fanconi anemia is a rare syndrome, with recessive
autosomic pattern of inheritance, and whose clinical manifestations are due
to chromosomic instability. 1,2 It is characterized by congenital
anomalies, hematopoietic defects and high risk of developing acute myeloid leukemia
and certain solid tumors.1-5 Cells present an increase in spontaneous
chromosomic breakage, as well as induced by agents such as mytomicin C, bussulfan,
nitrogen mustard, cisplatin and diepoxibutane.2,4 The high number
of chromosomic breakages constitutes an essential finding for laboratorial diagnosis.1

Cutaneous abnormalities occur in up to 80% of
the cases, and are characterized by intense and diffuse hyperpigmentation in
the face and cervical regions, joints and trunk, besides café-au-lait
spots and hypopigmented or achromic spots. Dermatological alterations, present
at birth or started at the begging of childhood, may be the only manifestations.4

Hematological alterations generally have their
onset before age of 10, and include macrocytosis and bone marrow hypoplasia,
which may evolve to aplasia.1,2,4

Bone malformations, such as thumb, metacarpi
and radius hypoplasia, hip dislocation and scoliosis may also be part of the
picture. Approximately 60% of the patients have low stature, and most of them
are born pre-term.4

Around 28% have renal deformities  aplasia
and horseshoe kidneys. Ocular abnormalities are evident in 21% of the patients,
including strabismus and microophtalmy. Hypogonadism can occur in up to 20%
of the cases.4

Central nervous system alterations and anatomical
alteration of the ear can be observed in less than one fifth of patients, along
with mental retardation, hyperreflexia and hypoacusis.2,4 Incidence
of neoplasias is high among Fanconi anemia patients, particularly that of myeloid
leukemia. Course is generally fatal, in an early age, owing to infections, hemorrhages
or neoplasias.1,4,6 Rare are the bearers of Fanconi anemia who reach
the age as the patient presented here, who is alive and clinically asymptomatic.

Treatment is based on control of occasional
complications. Bone marrow transplantation is a therapeutic possibility for
patients who develop aplasia.